ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2167+5G>A (rs771583281)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667707 SCV000792201 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000667707 SCV000893290 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001035076 SCV001198388 pathogenic not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the USH2A gene. It does not directly change the encoded amino acid sequence of the USH2A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs771583281, ExAC 0.01%). This variant has been reported in the homozygous or compound-heterozygous state in individuals affected with Usher syndrome 2 or retinitis pigmentosa (PMID: 12112664, 21151602, 30190494, 24516651). This variant is also known as IVS12+5G>A. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this intronic change leads to exon 12 skipping and creates a new donor splice site resulting in the deletion of the last 30 nucleotides of exon 12 (PMID: 20497194). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073540 SCV001239087 pathogenic Retinal dystrophy 2019-05-22 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003280 SCV001161363 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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